Abstract
One hundred twenty-eight blood samples were drawn from members of a single family with atypical vitelliform macular dystrophy (VMD-1) characterized by variable expressivity in affected members of at least 5 generations. Because of the late onset of detectable retinal lesions in most family members, phenotype data from only 93 individuals who were at least 14 years of age were analyzed for linkage. Phenotype data from the remaining 35 members of the family who were under age 14 were excluded from the analysis. Maximum-likelihood analysis for linkage between VMD-1 and 13 biochemical and serological markers in the family demonstrated linkage between VMD-1 and the soluble glutamate pyruvate transaminase (GPT1) locus, which has been tentatively assigned to the short arm of chromosome 16. A maximum lod score of Z = 4.34 (odds favoring linkage of approximately 22,000 to 1) was obtained at a recombination fraction of theta = .05.
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- Ferrell R. E., Bertin T., Barton S. A., Rothhammer F., Schull W. J. The Multinational Andean Genetic and Health Program. IX. Gene frequencies and rare variants of 20 serum proteins and erythrocyte enzymes in the Aymara of Chile. Am J Hum Genet. 1980 Jan;32(1):92–102. [PMC free article] [PubMed] [Google Scholar]
- Hittner H. M., Ferrell R. E. Autosomal dominant ophthalmologic disorders and linkage. J Pediatr Ophthalmol Strabismus. 1982 Jan-Feb;19(1):40–47. doi: 10.3928/0191-3913-19820101-10. [DOI] [PubMed] [Google Scholar]
- MORTON N. E. Sequential tests for the detection of linkage. Am J Hum Genet. 1955 Sep;7(3):277–318. [PMC free article] [PubMed] [Google Scholar]
- Morton N. E. Analysis of crossingover in man. Cytogenet Cell Genet. 1978;22(1-6):15–36. doi: 10.1159/000130916. [DOI] [PubMed] [Google Scholar]
- Ott J. A computer program for linkage analysis of general human pedigrees. Am J Hum Genet. 1976 Sep;28(5):528–529. [PMC free article] [PubMed] [Google Scholar]
- Ott J. A simple scheme for the analysis of HLA linkages in pedigrees. Ann Hum Genet. 1978 Oct;42(2):255–257. doi: 10.1111/j.1469-1809.1978.tb00657.x. [DOI] [PubMed] [Google Scholar]